Incidental Mutation 'R4475:Siah1b'
ID 330540
Institutional Source Beutler Lab
Gene Symbol Siah1b
Ensembl Gene ENSMUSG00000040749
Gene Name siah E3 ubiquitin protein ligase 1B
Synonyms Sinh1b
MMRRC Submission 041732-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R4475 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 162853701-162859489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 162854688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 131 (P131S)
Ref Sequence ENSEMBL: ENSMUSP00000071592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037928] [ENSMUST00000071667] [ENSMUST00000134272]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000037928
AA Change: P131S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043215
Gene: ENSMUSG00000040749
AA Change: P131S

DomainStartEndE-ValueType
RING 41 75 5.56e-1 SMART
Pfam:Sina 82 278 1.2e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071667
AA Change: P131S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071592
Gene: ENSMUSG00000040749
AA Change: P131S

DomainStartEndE-ValueType
RING 41 75 5.56e-1 SMART
Pfam:Sina 82 278 1.2e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134272
SMART Domains Protein: ENSMUSP00000114867
Gene: ENSMUSG00000040749

DomainStartEndE-ValueType
SCOP:d1jm7b_ 21 65 1e-7 SMART
Blast:DUF4205 21 66 3e-17 BLAST
Meta Mutation Damage Score 0.8481 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 97% (38/39)
MGI Phenotype FUNCTION: This gene encodes a member of the seven in absentia homolog (Siah) family of E3 ubiquitin ligase enzymes that catalyze the transfer of ubiquitin to substrate proteins. The encoded protein targets Pard3A (partitioning defective 3A) protein for proteasome-mediated degradation during the exit of cerebellar granule neurons from their germinal zone niche. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Primary mouse embryonic fibroblasts hemizygous for a targeted allele show no apparent alterations in Trp53-mediated responses or mitotic progression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T A 16: 14,407,227 (GRCm39) I52N possibly damaging Het
Adgra3 A T 5: 50,159,240 (GRCm39) Y337N probably damaging Het
Aga T C 8: 53,964,871 (GRCm39) L11P probably damaging Het
Akap6 T C 12: 53,188,426 (GRCm39) F1947L probably benign Het
Atp6v1c1 T C 15: 38,677,817 (GRCm39) I114T probably benign Het
Bltp1 A G 3: 37,094,544 (GRCm39) T904A probably damaging Het
Dbh T A 2: 27,070,984 (GRCm39) probably null Het
Dgkh T C 14: 78,827,318 (GRCm39) D858G possibly damaging Het
Dlx5 T C 6: 6,881,663 (GRCm39) Y75C probably damaging Het
Dnah8 T C 17: 30,875,959 (GRCm39) F529L probably benign Het
Epg5 A C 18: 77,991,723 (GRCm39) D140A probably benign Het
Esr2 C T 12: 76,180,716 (GRCm39) D402N probably benign Het
Hells A G 19: 38,933,973 (GRCm39) T265A probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hspa8 T A 9: 40,715,442 (GRCm39) probably benign Het
Ighm A G 12: 113,384,513 (GRCm39) probably benign Het
Nedd4 C T 9: 72,578,521 (GRCm39) R78* probably null Het
Nrxn1 G T 17: 91,009,410 (GRCm39) N388K probably damaging Het
Oprk1 T A 1: 5,672,824 (GRCm39) Y320* probably null Het
Or10j2 T C 1: 173,098,480 (GRCm39) V246A probably damaging Het
Or9s27 T C 1: 92,516,301 (GRCm39) V83A probably benign Het
Parn A G 16: 13,482,549 (GRCm39) S100P probably benign Het
Piezo2 A G 18: 63,235,170 (GRCm39) L809P probably damaging Het
Plek C T 11: 16,935,528 (GRCm39) probably null Het
Prg4 T C 1: 150,330,610 (GRCm39) probably benign Het
Rrs1 T C 1: 9,615,810 (GRCm39) L21P probably damaging Het
Sim2 T C 16: 93,926,650 (GRCm39) S625P probably benign Het
Smpd5 T C 15: 76,178,926 (GRCm39) L98P probably damaging Het
Srpra A G 9: 35,124,155 (GRCm39) K34E possibly damaging Het
Tbc1d2 A G 4: 46,609,080 (GRCm39) V719A possibly damaging Het
Tmem52b C T 6: 129,491,219 (GRCm39) H37Y probably benign Het
Tnip1 A G 11: 54,830,422 (GRCm39) probably null Het
Trim3 A G 7: 105,267,009 (GRCm39) Y457H probably damaging Het
Usp34 T C 11: 23,407,975 (GRCm39) I2600T possibly damaging Het
Vmn2r129 T G 4: 156,691,085 (GRCm39) noncoding transcript Het
Zfp365 C A 10: 67,724,750 (GRCm39) K379N possibly damaging Het
Other mutations in Siah1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4435:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
R4436:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
R4437:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
R4438:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
R4473:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
R4474:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAAAGAACTGCTGATGACC -3'
(R):5'- AACTTACATGTTGTCCCACCTG -3'

Sequencing Primer
(F):5'- CCTGTTTCTCCAAGACTAACATG -3'
(R):5'- TTGTCCCACCTGCCGGG -3'
Posted On 2015-07-21